2023年4月5日 · Porphyria (por-FEAR-e-uh) refers to a group of rare disorders that result from a buildup of natural chemicals called porphyrins in the body. Porphyrins are needed to make heme, a part of hemoglobin. Hemoglobin is a protein in red blood cells.

紫质症（Porphyria）其肇因于人体血质(heme)合成路径之酵素部份或完全缺乏，导致紫质或其 前驱物 异常增加，堆积於组织内而致病。 人体以紫质为前驱物，透过特定酶的 催化作用 来制造血基质，一旦酶无法正常作用，紫质等物质便越积越多，最终引发紫质症。 发生原因：有先天性遗传也有后天性造成，因此可广义的分类为急性或缓发行两类，又或根据紫质积累的地方分为肝脏性及皮肤性两类。 两种分类的范围大致相同，但以 遗传性 病例居多，有研究显示和 1号染色体 的异 …

Porphyria (/ p ɔːr ˈ f ɪr i ə / or / p ɔːr ˈ f aɪ r i ə /) is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system. [1] The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration. [1]

2025年3月3日 · Porphyria refers to a group of disorders (often genetic) that affect your nervous system and/or skin. Acute porphyrias cause painful attacks that can last days or weeks. Cutaneous porphyrias make your skin sensitive to light and cause symptoms like pain, swelling and blisters. Treatment can help manage and prevent symptoms.

2024年12月27日 · 卟啉病（英语： porphyria ）又称紫质症 [1] [2] 、吡咯卟啉病 [3] ，是因血红素 生物合成途径中酶缺陷，导致该反应过程中间代谢产物（卟啉化合物、卟啉 前体）生成过量并蓄积于肝脏等组织，引发神经系统症状、光敏性皮肤损害症状，甚至内脏器官病变的一组 ...

2020年7月13日 · Porphyrias are a group of rare inherited blood disorders. People with these disorders have problems making a substance called heme in their bodies. Heme is made of body chemicals called porphyrin,...

2023年7月17日 · Acute porphyrias are a group of rare disorders characterized by an enzymatic defect in the heme biosynthetic pathway. Patients present with acute, debilitating, and at times life-threatening symptoms that may be precipitated …

Porphyrias are rare disorders that mainly affect the skin or nervous system. These disorders are usually inherited, meaning they are caused by gene mutations passed from parents to children.

Most commonly the porphyrias are divided into the “acute“ and “cutaneous” porphyrias, depending on the primary symptoms.

2024年10月3日 · Porphyria is a group of inherited disorders caused by an abnormality in one of the steps your body uses to make heme. Heme is the protein in your red blood cells that makes them red and carries...